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Previous studies have suggested that copy number variations (CNVs) and single\u2010gene mutations might contribute to the development of MRKH syndrome. In particular, deletions in 16p11.2, which are suggested to be involved in several congenital diseases, have been reported in Chinese type II MRKH patients and European MRKH patients. However, few CNVs including 16p11.2 microdeletions were identified in Chinese type I MRKH cases although it accounted for the majority of MRKH patients in China. Thus, we conducted a retrospective study to identify whether CNVs at human chromosome 16p11.2 are risk factors of type I MRKH syndrome in the Chinese Han population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We recruited 143 patients diagnosed with type I MRKH between 2012 and 2014. Five hundred unrelated Chinese without congenital malformation were enrolled in control group, consisting of 197 from the 1000 Genomes Project and 303 from Fudan University. Quantitative PCR, array comparative genomic hybridization, and sanger sequencing were conducted to screen and verify candidate variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our study identified recurrent 16p11.2 microdeletions of approximately 600\u2009kb in two out of the 143 type I MRKH syndrome patients using high\u2010density array\u2010based comparative genomic hybridization (aCGH), while no 16p11.2 deletion was found in the control group. We did not find any mutations in <jats:italic>TBX6<\/jats:italic> gene in our samples.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The results of the study identify 16p11.2 deletion in Chinese MRKH I patients for the first time, as well as support the contention that 16p11.2 microdeletions are associated with MRKH syndrome in both types across populations. It is suggested that 16p11.2 microdeletions should be included in molecular diagnosis and genetic counseling of female reproductive tract disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2280","type":"journal-article","created":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T09:05:42Z","timestamp":1696410342000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Recurrent human 16p11.2 microdeletions in type I <scp>Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser<\/scp> (<scp>MRKH<\/scp>) syndrome patients in Chinese Han population"],"prefix":"10.1002","volume":"12","author":[{"given":"Kaizhen","family":"Su","sequence":"first","affiliation":[{"name":"The International Peace Maternity and Child Health Hospital School of Medicine Shanghai Jiao Tong University  Shanghai China"},{"name":"Shanghai Municipal Key Clinical Specialty  Shanghai 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Medicine Zhejiang University  Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunbo","family":"Yang","sequence":"additional","affiliation":[{"name":"Women's Hospital School of Medicine Zhejiang University  Zhejiang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daizhan","family":"Zhou","sequence":"additional","affiliation":[{"name":"Bio\u2010X Institutes of Shanghai Jiao Tong University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hefeng","family":"Huang","sequence":"additional","affiliation":[{"name":"The International Peace Maternity and Child Health Hospital School of Medicine Shanghai Jiao Tong University  Shanghai China"},{"name":"Obstetrics and Gynecology Hospital Institute of Reproduction and Development Fudan University  Shanghai China"},{"name":"Research Units of Embryo Original Diseases Chinese Academy of Medical Sciences (No. 2019RU056)  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanting","family":"Wu","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Hospital Institute of Reproduction and Development Fudan University  Shanghai China"},{"name":"Research Units of Embryo Original Diseases Chinese Academy of Medical Sciences (No. 2019RU056)  Shanghai 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